(used for variant description)
(last modified February 13, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_000595.3 in the LTA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering LTA transcript NM_000595.3.(upstream sequence) . . . . g.5237 gcacagcaggtgaggctctcctgccccatctccttgggctgc c.-121 . . . . . . g.5297 ccgtgcttcgtgctttggactaccgcccagcagtgtcctgccctctgcctgggcctcggt c.-61 . . . . . . | 02 g.5644 ccctcctgcacctgctgcctggatccccggcctgcctgggcctgggccttg | gttctcccc c.-1 . . . . . . g.5704 ATGACACCACCTGAACGTCTCTTCCTCCCAAGGGTGTGTGGCACCACCCTACACCTCCTC c.60 M T P P E R L F L P R V C G T T L H L L p.20 . . . | 03 . . g.5850 CTTCTGGGGCTGCTGCTGGTTCTGCTGCCTGGGGCCCAG | GGGCTCCCTGGTGTTGGCCTC c.120 L L G L L L V L L P G A Q | G L P G V G L p.40 . . . . . . g.5910 ACACCTTCAGCTGCCCAGACTGCCCGTCAGCACCCCAAGATGCATCTTGCCCACAGCACC c.180 T P S A A Q T A R Q H P K M H L A H S T p.60 . . | 04 . . . . g.6217 CTCAAACCTGCTGCTCACCTCATTG | GAGACCCCAGCAAGCAGAACTCACTGCTCTGGAGA c.240 L K P A A H L I G | D P S K Q N S L L W R p.80 . . . . . . g.6277 GCAAACACGGACCGTGCCTTCCTCCAGGATGGTTTCTCCTTGAGCAACAATTCTCTCCTG c.300 A N T D R A F L Q D G F S L S N N S L L p.100 . . . . . . g.6337 GTCCCCACCAGTGGCATCTACTTCGTCTACTCCCAGGTGGTCTTCTCTGGGAAAGCCTAC c.360 V P T S G I Y F V Y S Q V V F S G K A Y p.120 . . . . . . g.6397 TCTCCCAAGGCCACCTCCTCCCCACTCTACCTGGCCCATGAGGTCCAGCTCTTCTCCTCC c.420 S P K A T S S P L Y L A H E V Q L F S S p.140 . . . . . . g.6457 CAGTACCCCTTCCATGTGCCTCTCCTCAGCTCCCAGAAGATGGTGTATCCAGGGCTGCAG c.480 Q Y P F H V P L L S S Q K M V Y P G L Q p.160 . . . . . . g.6517 GAACCCTGGCTGCACTCGATGTACCACGGGGCTGCGTTCCAGCTCACCCAGGGAGACCAG c.540 E P W L H S M Y H G A A F Q L T Q G D Q p.180 . . . . . . g.6577 CTATCCACCCACACAGATGGCATCCCCCACCTAGTCCTCAGCCCTAGTACTGTCTTCTTT c.600 L S T H T D G I P H L V L S P S T V F F p.200 . g.6595 GGAGCCTTCGCTCTGTAG c.618 G A F A L X p.205 . . . . . . g.6655 aacttggaaaaatccagaaagaaaaaataattgatttcaagaccttctccccattctgcc c.*60 . . . . . . g.6715 tccattctgaccatttcaggggtcgtcaccacctctcctttggccattccaacagctcaa c.*120 . . . . . . g.6775 gtcttccctgatcaagtcaccggagctttcaaagaaggaattctaggcatcccaggggac c.*180 . . . . . . g.6835 cacacctccctgaaccatccctgatgtctgtctggctgaggatttcaagcctgcctagga c.*240 . . . . . . g.6895 attcccagcccaaagctgttggtctgtcccaccagctaggtggggcctagatccacacac c.*300 . . . . . . g.6955 agaggaagagcaggcacatggaggagcttgggggatgactagaggcagggaggggactat c.*360 . . . . . . g.7015 ttatgaaggcaaaaaaattaaattatttatttatggaggatggagagaggggaataatag c.*420 . . . . . . g.7075 aagaacatccaaggagaaacagagacaggcccaagagatgaagagtgagagggcatgcgc c.*480 . . . . . . g.7135 acaaggctgaccaagagagaaagaagtaggcatgagggatcacagggccccagaaggcag c.*540 . . . . . . g.7195 ggaaaggctctgaaagccagctgccgaccagagccccacacggaggcatctgcaccctcg c.*600 . . . g.7226 atgaagcccaataaacctcttttctctgaaa c.*631 (downstream sequence)Legend:
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